L153S (p.Leu153Ser) variant of FANCD2 (Fanconi anemia group D2 protein)
L153S (p.Leu153Ser) in FANCD2 (Fanconi anemia group D2 protein) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as pathogenic in the context of Fanconi anemia. The available variant effect predictions contribute to a CATVariant prioritization score of 0.61 / 1. The record also includes population frequency data, published literature, and structural context.
L153S (p.Leu153Ser) variant details
- p.Leu153Ser
- rs765576835
- ClinGen CA2249227
- ClinVar RCV003636471
- ExAC rs765576835
- Pathogenic
- Fanconi anemia
- Missense
- Variant Prioritization Score for Impact Estimate 0.615
- AlphaMissense 0.92
- MetaLR 0.41
- MetaSVM -0.12
- CADD 28.40
- PolyPhen-2 1.00
- SIFT 0.00
- ClinVar: Pathogenic (Fanconi anemia)
- EBI: Pathogenic
- UniProt: Pathogenic
- Most common in the Non-Finnish European population (allele frequency 1.8e-05)
- Structural context available
- Cited in: Carrier screening in individuals of Ashkenazi Jewish descent. (PMID 18197057)
- Cited in: ACOG Committee Opinion No. 442: Preconception and prenatal carrier screening for genetic diseases in individuals of… (PMID 19888064)